Group Turunen

Eye Genetics Group

The group performs and provides quality research in genetic eye diseases, identifies mutations behind them and provides individuals affected with genetic eye diseases an opportunity for accurate molecular diagnosis. We perform both clinical phenotypic and genetic laboratory studies to elucidate genetic causes and predisposition to eye diseases.

Uveal melanoma genetics and BAP1 cancer syndrome: Uveal melanoma is the most common primary intraocular cancer. It metastasizes in approximately one half of patients. For reasons unknown, the incidence of uveal melanoma is highest in northern latitudes. In Finland, all uveal melanoma patients are treated in the Helsinki University Hospital. Therefore, we have a very representative population-wide sample. We have reported that 2% of Finnish uveal melanoma patients harbor a mutation in the BAP1 gene, but this explains only 20% of familial cases. We are searching for new genes predisposing to this cancer using next generation sequencing techniques.

Inherited corneal dystrophies: We are investigating several genetic corneal diseases to identify new genes behind them.

Rare retinal diseases: Coats’ disease is a rare condition found in children and some adults where there is abnormal development of the blood vessels in the retina of the eye. It can lead severely decreased vision. Given that a smilar vasculopathy can be syndromic, we are currently performing whole exome sequencing studies to identify possible genetic causes of this disease.

Early-onset glaucoma: We are collecting samples to investigate the prevalence of pathogenic variants in the MYOC gene (Myocilin) in Finnish juvenile open angle glaucoma patients. Later, we will utilize whole exome genome wide screens to identify new glaucoma genes.

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Pauliina Repo PhD student

Sabita Kawan PhD student

Inka Penttinen PhD student

Perttu Liuska MD/PhD student

Reetta-Stiina Järvinen BSc

Johannes Jäntti BM

Aleksandra Stackiewicz, student

Annamari Immonen, optometrist

Mira Järvinen, optometrist

Ilona Mikkonen, research nurse

Repo P, Järvinen RS, Jäntti JE, Markkinen S, Täll M, Raivio V, Turunen JA, Kivelä TT. Population-based analysis of BAP1 germline variations in patients with uveal melanoma. Hum Mol Genet. 2019 Jul 15;28(14):2415-2426.

Walpole S, Pritchard AL, Cebulla CM, Pilarski R, Stautberg M, Davidorf FH, de la Fouchardière A, Cabaret O, Golmard L, Stoppa-Lyonnet D, Garfield E, Njauw CN, Cheung M, Turunen JA, Repo P, Järvinen RS, van Doorn R, Jager MJ, Luyten GPM, Marinkovic M, Chau C, Potrony M, Höiom V, Helgadottir H, Pastorino L, Bruno W, Andreotti V, Dalmasso B, Ciccarese G, Queirolo P, Mastracci L, Wadt K, Kiilgaard 

JF, Speicher MR, van Poppelen N, Kilic E, Al-Jamal RT, Dianzani I, Betti M, Bergmann C, Santagata S, Dahiya S, Taibjee S, Burke J, Poplawski N, O'Shea SJ,

Newton-Bishop J, Adlard J, Adams DJ, Lane AM, Kim I, Klebe S, Racher H, Harbour JW, Nickerson ML, Murali R, Palmer JM, Howlie M, Symmons J, Hamilton H, Warrier

S, Glasson W, Johansson P, Robles-Espinoza CD, Ossio R, de Klein A, Puig S,Ghiorzo P, Nielsen M, Kivelä TT, Tsao H, Testa JR, Gerami P, Stern MH, Paillerets BB, Abdel-Rahman MH, Hayward NK. Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide. J Natl Cancer Inst. 2018 Dec 1;110(12):1328-1341.

Turunen JA, Wedenoja J, Repo P, Järvinen RS, Jäntti JE, Mörtenhumer S,Riikonen AS, Lehesjoki AE, Majander A, Kivelä TT. Keratoendotheliitis FugaxHereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene. Am J Ophthalmol. 2018 Apr;188:41-50.


Turunen JA, Markkinen S, Wilska R, Saarinen S, Raivio V, Täll M, Lehesjoki AE, Kivelä TT. BAP1 Germline Mutations in Finnish Patients with Uveal Melanoma. Ophthalmology. 2016 May;123(5):1112-7.

Anna Majander MD PhD, pediatric ophthalmologist

Martin Täll MD, ocular oncologist

Virpi Raivio MD PhD, ocular oncologist and vitreoretinal surgeon

Minna Vesaluoma, MD PhD, cornea specialist

Kari Krootila, MD PhD, anterior segment surgeon

Mika Harju MD PhD, professor

Anna-Elina Lehesjoki MD PhD, professor

    • Joni A. Turunen

      MD PhD, FEBO, Ophthalmologist

    • Tel:
      +358 50 544 9088

    • Contact
    • Tero Kivelä

      Professor, MD, PhD, FEBO

    • Tel:
      +358 10 328 1900

    • Contact